Annotation Detail

Information
Associated Genes
ABCG2
Associated Variants
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
ABCG2 p.Gln141Lys (p.Q141K) ( ENST00000237612.8, ENST00000515655.5, ENST00000650821.1 )
Associated Disease
hyperuricemia
Source Database
DisGeNET
Description
[The association of the causal ABCG2 rs2231142 variant with uric acid levels and gout was confirmed in a sample of Japanese ancestry. Our study emphasizes the importance of this common causal variant in a population with a high risk allele frequency, espec]
Pubmed
20421215
Original source reporting the Gene Disease association
GAD
DisGENET score for the Gene Disease association
0.013811197867693
Year of publication
2010
Drugs